Alport syndrome (AS) is a heterogeneous basement membrane disease characterised by haematuria with progressive hereditary nephritis, high-frequency sensorineural hearing loss (SNHL) and pathognomonic ocular lesions. It is one of the spectra of diseases representing hereditary nephritis, which inevitably leads to end-stage renal disease (ESRD). Microscopic or frank haematuria persistent from childhood constitutes the clinical clue for its early recognition. It occurs as a result of genetically inherited or de novo mutations in type IV collagen genes. The most common mode of inheritance is X-linked and men are more severely affected. We report a case of a young woman, in her fourth decade of life presenting with overt nephropathy, having persistent haematuria associated with SNHL and lenticonus with dot and fleck retinopathy on detailed clinical examination, diagnosed as a previously undetected case of Alport syndrome.

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Neuropathic arthropathy (Charcot joints), which most frequently affects the weight-bearing joints of the body, is commonly associated with a variety of medical and neurological conditions, and is notoriously difficult to treat due to the nature of the underlying pathology. We present a case of idiopathic neuropathic arthropathy of the thumb CMC joint of an elderly female complicated by blunt trauma to the thumb. To our knowledge, this is the first reported case in the literature of this rare association.

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